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Article

[Genetic and molecular characterization of 148 patients with autosomal dominant retinitis pigmentosa (ADRP)].

Archivos de la Sociedad Espanola de Oftalmologia - 1 Sept 2002

Millá E, Maseras M, Martínez-Gimeno M, Gamundi M J, Assaf H, Esmerado C, Carballo M

Abstract excerpt

OBJECTIVE: Genetic characterization of a series of patients with autosomal dominant retinitis pigmentosa (ADRP). METHODS: All patients underwent complete ophthalmological examination including computerized perimetry, electroretinography and occasionally fluorescein angiography. Blood samples were drawn for genetic analysis of candidate genes namely rhodopsin (RHO), peripherin-RDS, ROM-1, CRX, RP1 and NRL....

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Source

Identifiers

PMID: 12221539

Genes

RHO
NRL
CRX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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[Genetic and molecular characterization of 148 patients with autosomal dominant retinitis pigmentosa (ADRP)].PMID 12221539Read ↗

[Mutational screening of peripherin/RDS genes, rhodopsin and ROM-1 in 69 index cases with retinitis pigmentosa and other retinal dystrophies].Semantic proximity Read ↗

Molecular screening of rhodopsin and peripherin/RDS genes in Mexican families with autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

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Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families.Semantic proximity Read ↗

A novel mutation of the RP1 gene (Lys778ter) associated with autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families.Semantic proximity Read ↗

Prevalence of Rhodopsin mutations in autosomal dominant Retinitis Pigmentosa in Spain: clinical and analytical review in 200 families.Semantic proximity Read ↗

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RHO Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic Landscape.Semantic proximity Read ↗

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